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[A diagnostic approach to relatively common mild bleeding symptoms: screening of congenital mild bleeding disorders]
1Department of Laboratory Medicine, Tokyo Medical University.
Although mild skin and mucosal bleeding symptoms are common in patients with inherited bleeding disorders, both can also be observed in healthy individuals. These bleeding symptoms may be caused by disorders of primary hemostasis (i.e., von Willebrand disease and platelet function disorders), mild deficiencies of clotting factors and some rare hyper fibrinolytic disorders are also included. To date, mild bleeding symptoms pose a frequent and substantial diagnostic challenge, and the definitive diagnosis of inherited bleeding disorders is not feasible in a vast majority of individuals despite an extensive laboratory workup. However, it must be diagnosed precisely to avoid severe complications and decrease bleeding risks before invasive procedures. Thus, a comprehensive diagnostic approach, from structured patient history to highly specialized laboratory diagnosis, is warranted to establish diagnosis of inherited bleeding disorders. Furthermore, the prophylaxis should be offered to prevent excessive bleeding in these patients with bleeding symptoms, even if they remain undiagnose of bleeding disorders.
Although mild skin and mucosal bleeding symptoms are common in patients with inherited bleeding disorders, both can also be observed in healthy individuals. These bleeding symptoms may be caused by disorders of primary hemostasis (i.e., von Willebrand disease and platelet function disorders), mild deficiencies of clotting factors and some rare hyper fibrinolytic disorders are also included. To date, mild bleeding symptoms pose a frequent and substantial diagnostic challenge, and the definitive diagnosis of inherited bleeding disorders is not feasible in a vast majority of individuals despite an extensive laboratory workup. However, it must be diagnosed precisely to avoid severe complications and decrease bleeding risks before invasive procedures. Thus, a comprehensive diagnostic approach, from structured patient history to highly specialized laboratory diagnosis, is warranted to establish diagnosis of inherited bleeding disorders. Furthermore, the prophylaxis should be offered to prevent excessive bleeding in these patients with bleeding symptoms, even if they remain undiagnose of bleeding disorders.
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